Osler-Weber-Rendu Syndrome: A Rare Cause of Iron Deficiency

Abstract

A 52-year-old man with frequent epistaxis presented with fatigue and exertional dyspnea. On physical examination, multiple telangiectasias were noted on the patient’s face, lips, tongue (Fig. 1), and finger tips (Fig. 2). Laboratory analysis demonstrated iron deficiency anemia (hemoglobin, 8.2 g/dl; ferritin: 15 ng/ml). Colonoscopy revealed multiple colonic telengiectasias, and endoscopic hemostatic treatment was performed on bleeding lesions. Figure 1 Multiple telangiectasias on the patient’s face, lips, and tongue. Figure 2 Multiple telangiectasias on the patient’s finger tips. Osler-Weber-Rendu syndrome (OWR), also known as hereditary hemorrhagic telangiectasia, is an autosomal dominant disease that affects all ethnic and racial groups with an overall frequency of 1 per 5,000 to 10,000 persons. Although the number and location of lesions vary widely, most telangiectasias are found in the oral, nasal, and gastrointestinal mucosa, as well as the fingertips, whereas arteriovenous malformation occurs most commonly in the lungs, liver, and central nervous system. The prevalence of intestinal telangiectasia varies from 10% to 33% in patients with OWR. Approximately 25% of individuals older than 60 years present with melena or anemia. Endoscopic ablation using electrocoagulation or laser techniques is useful for control of gastrointestinal bleeding in the short term.1